Medscape is available in 5 Language Editions – Choose your Edition here.


Elejalde Syndrome Treatment & Management

  • Author: Noah S Scheinfeld, JD, MD, FAAD; Chief Editor: Dirk M Elston, MD  more...
Updated: Jan 21, 2016

Medical Care

Therapeutic measures for Elejalde syndrome patients have included the use of steroids, anticonvulsants, and antipyretics, and they have been unsuccessful in all patients. Thus, whether any medical therapy can be recommended for Elejalde syndrome patients is unclear.

Contributor Information and Disclosures

Noah S Scheinfeld, JD, MD, FAAD Assistant Clinical Professor, Department of Dermatology, Weil Cornell Medical College; Consulting Staff, Department of Dermatology, St Luke's Roosevelt Hospital Center, Beth Israel Medical Center, New York Eye and Ear Infirmary; Assistant Attending Dermatologist, New York Presbyterian Hospital; Assistant Attending Dermatologist, Lenox Hill Hospital, North Shore-LIJ Health System; Private Practice

Noah S Scheinfeld, JD, MD, FAAD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Serve(d) as a speaker or a member of a speakers bureau for: Abbvie<br/>Received income in an amount equal to or greater than $250 from: Optigenex<br/>Received salary from Optigenex for employment.


Ann M Johnson, MD Assistant Professor of Clinical Radiology, University of Pennsylvania School of Medicine; Director, Body MRI, Department of Radiology, Children’s Hospital of Philadelphia

Ann M Johnson, MD is a member of the following medical societies: American Roentgen Ray Society, Radiological Society of North America, Society for Pediatric Radiology, International Society for Magnetic Resonance in Medicine, Society of Computed Body Tomography and Magnetic Resonance

Disclosure: Nothing to disclose.

Specialty Editor Board

David F Butler, MD Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: American Medical Association, Alpha Omega Alpha, Association of Military Dermatologists, American Academy of Dermatology, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Phi Beta Kappa

Disclosure: Nothing to disclose.

Jeffrey P Callen, MD Professor of Medicine (Dermatology), Chief, Division of Dermatology, University of Louisville School of Medicine

Jeffrey P Callen, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, American College of Rheumatology

Disclosure: Received income in an amount equal to or greater than $250 from: XOMA; Biogen/IDEC; Novartis; Janssen Biotech, Abbvie, CSL pharma<br/>Received honoraria from UpToDate for author/editor; Received honoraria from JAMA Dermatology for associate editor and intermittent author; Received royalty from Elsevier for book author/editor; Received dividends from trust accounts, but I do not control these accounts, and have directed our managers to divest pharmaceutical stocks as is fiscally prudent from Stock holdings in various trust accounts include some pharmaceutical companies and device makers for i inherited these trust accounts; for: Celgene; Pfizer; 3M; Johnson and Johnson; Merck; Abbott Laboratories; AbbVie; Procter and Gamble; Amgen.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Julie C Harper, MD Assistant Program Director, Assistant Professor, Department of Dermatology, University of Alabama at Birmingham

Julie C Harper, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Received honoraria from Stiefel for speaking and teaching; Received honoraria from Allergan for speaking and teaching; Received honoraria from Intendis for speaking and teaching; Received honoraria from Coria for speaking and teaching; Received honoraria from Sanofi-Aventis for speaking and teaching.

  1. Elejalde BR, Valencia A, Gilbert EF. Neuro-ectodermal melanolysosomal disease: an autosomal recessive pigment mutation in man [abstr]. Am J Hum Genet. 1977. 29:39A.

  2. Elejalde BR, Holguin J, Valencia A, et al. Mutations affecting pigmentation in man: I. Neuroectodermal melanolysosomal disease. Am J Med Genet. 1979. 3(1):65-80. [Medline].

  3. McKusick VA, Rasmussen SA. 256710 Neuroectodermal Melanolysosomal Disease. Online Mendelian Inheritance in Man. Available at Accessed: March 26, 2003.

  4. Elejalde syndrome. Available at Accessed: June 21, 2009.

  5. Cassandra L. Kniffin and Victor A. McKusick. Elejalde disease. Online Mendelian Inheritance in Man®. Available at Accessed: January 17, 2014.

  6. Tey HL. A practical classification of childhood hypopigmentation disorders. Acta Derm Venereol. 2010. 90:6-11. [Medline].

  7. Tey HL. Approach to hypopigmentation disorders in adults. Clin Exp Dermatol. 2010 Apr 26. [Medline].

  8. Sahana M, Sacchidanand S, Hiremagalore R, Asha G. Silvery grey hair: clue to diagnose immunodeficiency. Int J Trichology. 2012 Apr. 4(2):83-5. [Medline]. [Full Text].

  9. Cagdas D, Ozgür TT, Asal GT, et al. Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients. Eur J Pediatr. 2012 Oct. 171(10):1527-31. [Medline].

  10. Saini AG, Nagaraju S, Sahu JK, Rawat A, Vyas S, Singhi P. Teaching neuroImages: Griscelli syndrome and CNS lymphohistiocytosis. Neurology. 2014 Apr 8. 82(14):e122-3. [Medline].

  11. Dessinioti C, Stratigos AJ, Rigopoulos D, Katsambas AD. A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes. Exp Dermatol. 2009 Sep. 18(9):741-9. [Medline].

  12. Lambert J, Vancoillie G, Naeyaert JM. Elejalde syndrome revisited. Arch Dermatol. 2000 Jan. 136(1):120-1. [Medline].

  13. Sanal O, Yel L, Kucukali T, et al. An allelic variant of Griscelli disease: presentation with severe hypotonia, mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder). J Neurol. 2000 Jul. 247(7):570-2. [Medline].

  14. Anikster Y, Huizing M, Anderson PD, et al. Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A. Am J Hum Genet. 2002 Aug. 71(2):407-14. [Medline]. [Full Text].

  15. Wilson SM, Yip R, Swing DA, et al. A mutation in Rab27a causes the vesicle transport defects observed in ashen mice. Proc Natl Acad Sci U S A. 2000 Jul 5. 97(14):7933-8. [Medline].

  16. Wagner W, Brenowitz SD, Hammer JA 3rd. Myosin-Va transports the endoplasmic reticulum into the dendritic spines of Purkinje neurons. Nat Cell Biol. 2011 Jan. 13(1):40-8. [Medline].

  17. Miyata M, Kishimoto Y, Tanaka M, et al. A role for myosin Va in cerebellar plasticity and motor learning: a possible mechanism underlying neurological disorder in myosin Va disease. J Neurosci. 2011 Apr 20. 31(16):6067-78. [Medline].

  18. Afifi HH, Zaki MS, El-Kamah GY, El-Darouti M. Elejalde syndrome: clinical and histopathological findings in an Egyptian male. Genet Couns. 2007. 18(2):179-88. [Medline].

  19. Sori T, Nath AK, Thappa DM, Jaisankar TJ. Hypopigmentary disorders in children in South India. Indian J Dermatol. 2011 Sep-Oct. 56(5):546-9. [Medline]. [Full Text].

  20. Duran-McKinster C, Rodriguez-Jurado R, Ridaura C, et al. Elejalde syndrome--a melanolysosomal neurocutaneous syndrome: clinical and morphological findings in 7 patients. Arch Dermatol. 1999 Feb. 135(2):182-6. [Medline].

  21. Ivanovich J, Mallory S, Storer T, Ciske D, Hing A. 12-year-old male with Elejalde syndrome (neuroectodermal melanolysosomal disease). Am J Med Genet. 2001 Feb 1. 98(4):313-6. [Medline].

  22. Chen CP. Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. Taiwan J Obstet Gynecol. 2007 Jun. 46(2):111-20. [Medline].

  23. Raghuveer C, Murthy SC, Mithuna MN, Suresh T. Silvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings. Int J Trichology. 2015 Jul-Sep. 7 (3):133-5. [Medline].

  24. Bryceson YT, Pende D, Maul-Pavicic A, et al. A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. Blood. 2012 Mar 22. 119(12):2754-63. [Medline].

  25. Rose PT. Pigmentary disorders. Med Clin North Am. 2009 Nov. 93(6):1225-39. [Medline].

All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.